Submissions for variant NM_000038.6(APC):c.4054_4063del (p.Val1352fs)

dbSNP: rs1561589459

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780858	SCV000918476	likely pathogenic	Familial multiple polyposis syndrome	2018-12-04	criteria provided, single submitter	clinical testing	Variant summary: APC c.4054_4063del10 (p.Val1352LeufsX60) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.4393_4394dupAG, p.Ser1465fsX9 and c.5582_5585delCTTT, p.Ser1861fsX1). The variant was absent in 276526 control chromosomes (gnomAD). The variant, c.4054_4063del10, has been reported in the literature in one individual affected with Familial Adenomatous Polyposis (Kerr_2013). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.